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Birth Defects

What are Birth Defects?

Birth is a complex and wonderful process and fortunately, the birth outcome for most women is a full-term and healthy baby. As the fetus develops, there are critical windows when environmental exposures or genetic changes could damage the fetal growth and function. When this damage occurs, it results in what is called a birth defect. Most birth defects happen during the first 3 months of pregnancy but can occur at any point. Birth defects are a large public health problem that affects over 120,000 children in the United States. About 1 (one) out of every 33 babies is born with a birth defect. Birth defects are the leading causes of infant deaths. Babies born with birth defects have a greater chance of illness, long-term disability, and are also more likely to be born preterm (before the 37th week of pregnancy) than babies without birth defects. While some risk factors that contribute to birth defects are known, others require more research.

What are the Risk Factors for Birth Defects?

Birth defects affect one out of every 33 births. Some birth defects are considered minor in that they do not affect the daily life of the individual while others are more severe and require medical intervention early in life and throughout life. Birth defects might be associated with a number of risk factors, such as those listed below.

  • Advanced maternal age
  • Smoking
  • Alcohol consumption
  • Medication use and use of retinoic acid
  • Certain illnesses
  • Stress
  • Dietary or nutritional factors
  • Maternal occupations, including hairdressing, agriculture, leather or shoe manufacturing
  • Maternal exposure to chemicals, including pesticides, lead, aliphatic acids, organic solvents (such as xylene, toluene, acetone, and petroleum solvents), chlorinated solvents (used in dry cleaning), and oxygenated organic solvents (such as aliphatic alcohols, esters, ketones, and aliphatic aldehydes). These chemicals are found in a wide range of domestic and industrial products.

Reduce Risks:

While these factors can increase the risks of having a baby with birth defects, there are measures that can be taken to reduce the risks, like:

  • Taking 400mcg of folic acid before and during any pregnancy. However, if the mother has had a baby with neural tube defects, scientists advise to increase the intake to 4,000 mcg of folic acid
  • Not smoking, drinking alcohol or using illegal drugs
  • Talking to your doctor about any medications you take, including supplements
  • Talking to your doctor about your job and if you might come into contact with chemicals
  • Eating healthy and exercising

Even while having a healthy pregnancy or taking precautionary measures, it is not possible to completely eliminate the risks of having a baby with a birth defect. Some birth defects can be caused by genetic mutations, some others are of unknown etiology.

What Are The Birth Defects?

Oro-facial defects

Oro-facial birth defects affect some part of the face such as lips, mouth, or ears. The most common birth defects are cleft lip and cleft palate. Cleft lip/palate are birth defects that occur when a baby's lip or mouth do not form properly during pregnancy. As a fetus develops during pregnancy, body tissue from each side of the head grow toward the center of the face and join together to make the face. This joining of tissue forms the facial features, like the lips and mouth. If the tissue does not join together over the lip, this can cause a cleft lip. A cleft palate occurs when the tissue does not join together to form the roof of the mouth. Sometimes a baby will have both a cleft lip and a cleft palate. A baby that has a cleft lip or cleft palate can have trouble feeding and talking, can have ear infections, can have hearing problems, and can have issues with their teeth.

The causes of orofacial clefts among most infants are unknown. Some known factors that are associated with oro-facial clefts are smoking during pregnancy, maternal diabetes, and certain medications taken by the mother during pregnancy. Oro-facial clefts can often be diagnosed during pregnancy through the use of routine ultrasounds. They can also be diagnosed at time of birth. In rare cases, it may be later in life before an oro-facial cleft is diagnosed.

Treatment options vary by case but can often include multiple surgeries as a child grows to correct the oro-facial cleft. Always discuss treatment options with your baby's doctor. Babies born with an oro-facial cleft do well and lead healthy lives.

  • Cleft lip
  • Cleft palate
  • Anotia/Microtia (missing or small ears)

Congenital heart defects

Congenital heart defects (CHDs) are the most common type of birth defect. A child is said to have a CHD when they are born with a heart not normally formed. Approximately, 25% of CHDs are considered critical (CCHD), with the child needing medical intervention, often surgery, within the first year of life. There are several different CHDs, with seven of those considered CCHDs. With advancing medical care and treatment, babies with a CHD are living longer and healthier lives.

What are the symptoms of a heart defect?

It is important for parents and caregivers to be able to identify the symptoms of a heart defect and seek medical help immediately in case any of them are noticed.

  • Pounding heart
  • Weak pulse
  • Pale or blue-colored skin, nails, or lips
  • Fast or troubled breathing
  • Poor feeding
  • Very sleepy

What is New Mexico doing to protect my baby?

All birthing facilities in New Mexico are required to check newborns for birth defects, including CHDs. Parents choosing to forego this screening must sign a waiver

The screen for CHDs, called pulse oximetry, is painless and measures the baby's pulse and the level of oxygen in the baby's blood. Screening performed in the birthing facility before discharge allows immediate referral for follow-up testing if it is necessary.

  • D-transposition of the great arteries
  • Tetralogy of Fallot
  • Pulmonary atresia
  • Tricuspid atresia
  • Hypoplastic left heart syndrome
  • Total anomalous pulmonary venous connection
  • Atrial septal defect
  • Atrioventricular septal defect
  • Coarctation of the aorta
  • Truncus arteriosus
  • Ventricular septal defect
  • Double-outlet right ventricle
  • Ebstein anomaly
  • Interrupted aortic arch
  • Single ventricle

Neural Tube Defects

The neural tube is the early form of the brain and spine of a fetus and develops very early during pregnancy, often before a woman knows she is pregnant. Neural Tube Defects (NTDs) occur when the neural tube does not close properly.

The causes of NTDs are not fully known, however, one prevention method of NTDs that doctors recommend is that any woman of reproductive age take 400 mcg of folic acid daily. For women who have had a pregnancy affected by an NTD, doctors recommend that they consume 4,000mcg of folic acid starting 1 month before planning on becoming pregnant. When planning to become pregnant, women should always seek advice from their primary care provider.

NTDs are frequently diagnosed early in pregnancy using ultrasounds or are diagnosed at birth. Treatment will vary for each case and diagnosis. It is important to work with your baby's doctor to determine appropriate treatment plans. While some NTDs may be mild (like some cases of spina bifida) and result in a person living to their fullest potential, babies born with anencephaly often will die shortly after birth.

The types of neural tube defects are:

  • Spina Bifida
  • Anencephaly
  • Encephalocele
  • Microcephaly
  • Aniridia

New Mexico Birth Defects Prevention and Surveillance Program

To identify and help prevent birth defect, the NM Department of Health (NMDOH) developed the New Mexico Birth Defects Prevention and Surveillance Program (NMBDPSP), to actively surveille birth defect cases. This program is responsible for gathering information on all birth defects, reporting case counts to the Centers for Disease Control and Prevention (CDC), coordinating with Children's Medical Services (CMS) to refer families to health services, and providing education and outreach to the community and health care professionals. NMBDPSS was founded in 1995. Between 1995 and 1999, NMBDPSS performed passive, allowing for hospitals to voluntarily report birth defects. In 2000, birth defects became a reportable condition by law, with New Mexico health care providers having to inform NMDOH of any child with a birth defect thru 4 years of age. Initially, only 12 birth defects, that the CDC defined as the core defects, were tracked. In 2016, NMBDPSP was able to expand the number of birth defects tracked to 23. In 2018, NMBDPSP was again able to increase surveillance of birth defects to include all birth defects as well as neonatal abstinence syndrome (NAS).

The NMBDPSP is comprised of an epidemiologist and a Health Educator. The epidemiologist tracks birth defects in order to identify trends or changes in the prevalence of the different birth defects under surveillance with the purpose of developing strategies to reduce the risks of developing the birth defect in the future. The health educator uses the surveillance information to produce health prevention materials and to compile resources for families and community members whose lives are impacted by a loved one with a birth defect.

Notifiable Diseases or Conditions in New Mexico (N.M.A.C 7.4.3.13)

All birth defects diagnosed by age 4 years, including: Defects diagnosed during pregnancy, defects diagnosed on fetal deaths, defects found in chromosome testing on amniotic fluid, chorionic villus sampling and products of conception for Trisomy 13, Trisomy 18, and Trisomy 21. Report to Epidemiology and Response Division, NM Department of Health, P.O. Box 26110, Santa Fe, NM 87502-6110; or call 505-827-0006.